ClinVar Miner

Submissions for variant NM_152524.5:c.1453_1454delGA,NM_012130.3:c.254T>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Genetics,National Institutes of Health RCV000417144 SCV000494729 pathogenic Perrault syndrome 2016-08-30 no assertion criteria provided research A proband was diagnosed with Perrault syndrome. She does not have a pathogenic variant in any of the reported Pearrult syndrome genes. The proband is deaf and has ovarian dysfunction. Surprisingly, her deafness is due to a homozygous reported variant of CLDN14, while her POI is due to a homozygous truncating mutation of SGO2. This is the first description in human of a pathogenic variant of SGO2. However, in mouse homozygous mutations of Sgol2 encoding shugushin 2 are known to be necessary for meiosis. Loss of function of Sgol2 cause infertility in both males and females.

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